眼外胚层综合征：一例新病例。
Oculo-ectodermal syndrome: a new case.
作者信息
Evers M E, Dijkman-Neerincx R H, Hamel B C
机构信息
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
出版信息
Am J Med Genet. 1994 Dec 1;53(4):378-9. doi: 10.1002/ajmg.1320530415.
PMID:7864049
Abstract
We report on a girl with aplasia cutis congenita, epibulbar dermoids, and macrocephaly. To our opinion she has the same ocular-ectodermal syndrome as described by Toriello et al. [Am J Med Genet 45: 764-766, 1993].
摘要
我们报告了一名患有先天性皮肤发育不全、眼球皮样囊肿和巨头畸形的女孩。我们认为她患有与Toriello等人所描述的相同的眼外胚层综合征[《美国医学遗传学杂志》45: 764 - 766, 1993]。
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